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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392041.3:p.[Gln322_Asn327delinsValGlyCysProGlu;Ile330_Asn334delinsHisGlnProGlyGln;Leu336_Leu351delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2499220803
ENST00000442944.7:c.964_965del